Rx Enzyme Deficiencies

Question 1

Cystathione Synthase Deficiency presentation

Answer 1

Marfan like features, scoliosis, sublexation of lens, homocysteinuria, incr risk of premature vascular disease, death and CV derangements.
Atherosclerosis in children = highly suggestive of homocysteinuria

Question 2

Refsum Disease pathophys

Answer 2

disorder in myelin formation b/c disorder w/ fatty acid oxidation/synthesis
long chain FA metabolism = peroxisome

Question 3

Refsum Disease presentation

Answer 3

neurologic and dermatologic symptoms
staggering gait, thick, dry and scaly skin, cataracts, sensorineural hearing lose, difficulty smelling, delayed AP propagation

Question 4

enzyme defect in most common form of kyphoscoliotic Ehlers-Danlos

Answer 4

lysyl hydroxylase - cross-links collagen fibrils

PLOD1 mutation

Question 5

presentation of kyphoscoloiotic EDS

all EDS = jt hypermobility (size of jt varies)

Answer 5

congenital hypotonia, scoliosis, fragile sclera, retinal detachment, glaucoma, medium sized arterial rupture